ITIH4
inter-alpha-trypsin inhibitor heavy chain 4
Summary
The protein encoded by this gene is secreted into the blood, where it is cleaved by plasma kallikrein into two smaller forms. Expression of this gene has been detected only in liver, and it seems to be upregulated during surgical trauma. This gene is part of a cluster of similar genes on chromosome 3. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
Known Variants96 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1275719887 | 3:52,847,469 | C/T | — | uncertain significance |
| rs757402213 | 3:52,847,480 | C/G | — | uncertain significance |
| rs17331178 | 3:52,847,544 | C/A | downstream gene variant | — |
| rs2276811 | 3:52,847,984 | A/G | — | benign |
| rs151083454 | 3:52,848,037 | C/T | — | benign |
| rs557292280 | 3:52,848,240 | C/T | — | uncertain significance |
| rs201607989 | 3:52,848,266 | C/T | — | uncertain significance |
| rs748153261 | 3:52,848,267 | G/C | — | uncertain significance |
| rs146210920 | 3:52,848,278 | C/T | — | uncertain significance |
| rs139369931 | 3:52,848,293 | C/T | — | uncertain significance |
| rs147753898 | 3:52,848,294 | G/A | — | uncertain significance |
| rs2552129813 | 3:52,848,303 | A/G | — | uncertain significance |
| rs2552129822 | 3:52,848,354 | C/T | — | uncertain significance |
| rs2710328 | 3:52,849,455 | A/G | intron variant | — |
| rs7617468 | 3:52,849,549 | T/C | intron variant | — |
| rs2535624 | 3:52,850,181 | C/T | intron variant | — |
| rs773758377 | 3:52,850,955 | T/G | — | uncertain significance |
| rs1011774978 | 3:52,850,973 | G/T | — | uncertain significance |
| rs2535621 | 3:52,850,999 | A/G | — | benign |
| rs2240917 | 3:52,851,137 | T/A | — | — |
| rs2245538 | 3:52,852,060 | T/C | — | benign |
| rs1046815902 | 3:52,852,101 | C/A | — | uncertain significance |
| rs376241378 | 3:52,852,107 | G/A | — | uncertain significance |
| rs199751490 | 3:52,852,130 | C/T | — | likely benign |
| rs145279742 | 3:52,852,131 | G/A | — | uncertain significance |
| rs2245536 | 3:52,852,138 | A/G | — | benign |
| rs764417940 | 3:52,852,142 | T/A | — | uncertain significance |
| rs146853969 | 3:52,852,180 | G/A | — | benign |
| rs77606310 | 3:52,852,187 | G/A | — | benign |
| rs777037085 | 3:52,852,481 | C/T | — | likely benign |
| rs2256734 | 3:52,852,488 | C/G | — | benign |
| rs571010819 | 3:52,852,501 | C/A | — | uncertain significance |
| rs4687657 | 3:52,852,538 | G/T | — | benign |
| rs35004449 | 3:52,852,897 | G/T | intron variant | — |
| rs3821831 | 3:52,853,401 | C/T | splice region variant | benign |
| rs769039012 | 3:52,853,423 | C/T | — | uncertain significance |
| rs2276814 | 3:52,853,480 | T/A | — | benign |
| rs201259396 | 3:52,853,516 | C/T | — | uncertain significance |
| rs113745155 | 3:52,853,726 | C/G | upstream gene variant | — |
| rs2276815 | 3:52,853,747 | C/G | upstream gene variant | — |
| rs1401071974 | 3:52,853,802 | G/A | — | uncertain significance |
| rs1168207146 | 3:52,855,053 | C/T | — | uncertain significance |
| rs760260451 | 3:52,855,085 | T/C | — | likely benign |
| rs2239547 | 3:52,855,229 | T/C | regulatory region variant | — |
| rs780416772 | 3:52,857,589 | T/C | — | uncertain significance |
| rs143002894 | 3:52,857,599 | C/T | — | likely benign |
| rs199688247 | 3:52,857,612 | C/T | — | likely benign |
| rs757306717 | 3:52,857,663 | C/T | — | uncertain significance |
| rs150902707 | 3:52,857,664 | G/A | — | uncertain significance |
| rs368163088 | 3:52,857,685 | C/G | — | uncertain significance |
| rs146342384 | 3:52,857,877 | G/T | — | uncertain significance |
| rs373017674 | 3:52,857,880 | G/A | — | uncertain significance |
| rs376550669 | 3:52,857,889 | C/T | — | uncertain significance |
| rs2552131653 | 3:52,857,892 | C/T | — | uncertain significance |
| rs141154056 | 3:52,857,940 | C/T | missense variant | — |
| rs748039841 | 3:52,857,966 | C/T | — | likely benign |
| rs772055177 | 3:52,857,967 | G/A | — | uncertain significance |
| rs35672271 | 3:52,857,983 | C/T | — | benign |
| rs74971919 | 3:52,857,988 | C/T | — | likely benign |
| rs147858832 | 3:52,858,222 | A/G | — | benign |
| rs753455021 | 3:52,858,225 | G/A | — | likely benign |
| rs767558239 | 3:52,858,265 | C/T | — | uncertain significance |
| rs755162997 | 3:52,858,305 | T/C | — | likely benign |
| rs143388513 | 3:52,858,433 | G/A | — | uncertain significance |
| rs773848439 | 3:52,858,458 | C/T | — | uncertain significance |
| rs931455782 | 3:52,858,922 | A/G | — | uncertain significance |
| rs2552131930 | 3:52,858,937 | T/C | — | uncertain significance |
| rs201567558 | 3:52,858,981 | C/A | — | likely benign |
| rs2535633 | 3:52,859,630 | C/G | downstream gene variant | — |
| rs1578780652 | 3:52,859,912 | C/T | — | uncertain significance |
| rs145303130 | 3:52,859,953 | G/T | — | uncertain significance |
| rs112146826 | 3:52,860,045 | C/T | downstream gene variant | — |
| rs745998424 | 3:52,860,629 | A/C | — | uncertain significance |
| rs1322659581 | 3:52,860,834 | C/T | — | likely benign |
| rs747334942 | 3:52,860,863 | C/A | — | uncertain significance |
| rs375861170 | 3:52,860,871 | C/T | — | uncertain significance |
| rs774008449 | 3:52,860,872 | G/A | — | uncertain significance |
| rs143427404 | 3:52,860,876 | G/A | — | benign |
| rs2552132290 | 3:52,860,880 | A/T | — | uncertain significance |
| rs2276817 | 3:52,860,936 | C/T | — | benign |
| rs34967967 | 3:52,860,963 | G/A | — | benign |
| rs148418409 | 3:52,861,113 | C/T | — | benign |
| rs759298755 | 3:52,861,146 | C/T | — | likely benign |
| rs13072536 | 3:52,861,211 | A/T | — | benign |
| rs756495740 | 3:52,861,217 | G/C | — | likely benign |
| rs2535626 | 3:52,862,979 | A/G | downstream gene variant | — |
| rs771579969 | 3:52,863,201 | T/C | — | likely benign |
| rs774582505 | 3:52,863,219 | C/T | — | uncertain significance |
| rs113973204 | 3:52,863,269 | G/A | — | likely benign |
| rs3774364 | 3:52,863,605 | G/C | — | — |
| rs2071042 | 3:52,864,584 | A/G | — | benign |
| rs147068040 | 3:52,864,614 | G/A | — | likely benign |
| rs2276818 | 3:52,864,635 | A/G | — | benign |
| rs2071041 | 3:52,864,693 | T/C | — | — |
| rs77223362 | 3:52,865,125 | G/A | upstream gene variant | — |
| rs3755804 | 3:52,866,289 | C/A | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.